A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review
Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. Methods: The clinical data and genetic test of a child with COXPD32 hospitalized in the Department of Neurology, Children's Hospita...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 61(2023), 7 vom: 02. Juli, Seite 642-647
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| 1. Verfasser: |
Shen, M X
(VerfasserIn) |
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| Weitere Verfasser: |
Ji, X N,
Wu, F,
Gao, Y Y,
Feng, S,
Xie, L N,
Zheng, P,
Mao, Y Y,
Chen, Q |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2023
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Review
Case Reports
English Abstract
Journal Article |
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